Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair

Hereditary mutations in polynucleotide kinase-phosphatase (PNKP) result in a spectrum of neurological pathologies ranging from neurodevelopmental dysfunction in microcephaly with early onset seizures (MCSZ) to neurodegeneration in ataxia oculomotor apraxia-4 (AOA4) and Charcot-Marie-Tooth disease (C...

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Detalles Bibliográficos
Autores principales: Kalasova, Ilona, Hailstone, Richard, Bublitz, Janin, Bogantes, Jovel, Hofmann, Winfried, Leal, Alejandro, Hanzlikova, Hana, Caldecott, Keith W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Genome Integrity, Repair and Replication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7337934/
https://www.ncbi.nlm.nih.gov/pubmed/32504494
http://dx.doi.org/10.1093/nar/gkaa489

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